GeneID: 343



Names

Common Name: TR2 Type: Gene
Chromosome: 12 (NC_000012.12) Locus: NM_003297.4 (NR2C1)
HUGO Symbol: NR2C1 Full Name: nuclear receptor subfamily 2 group C member 1
Exons: 14 Introns: 13

Description:
This gene encodes a protein that belongs to the nuclear hormone receptor family, the testicular receptor 2 (NR2C1, TR2). Members of this family function in many biological processes such as development, cellular differentiation and homeostasis. It is characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the nuclear receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Together with NR2C2 (TR4), forms the core of the DRED (direct repeat erythroid-definitive) complex that binds to direct repeat (DR) elements (AGGTCA repeats) localised in the promoters of the ε- and γ-globin genes, repressing their expression in definitive erythroid cells. Experimental evidence suggests that the TR2/TR4 complex is a stage-selective repressor of embryonic and fetal globin genes. However, forced expression of this complex in β-YAC transgenic mice and a humanized sickle cell disease (SCD) mouse model led to induction of the fetal γ-globin gene in adult erythroid cells and, in turn, to effective reversal of the disease phenotype. Modulating the activity of the TR2 and TR4 nuclear receptors could thus offer a promising therapeutic strategy for the treatment of SCD and β-thalassaemia.

Synonyms: N/A

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Tanabe O, McPhee D, Kobayashi S, Shen Y, Brandt W, Jiang X, Campbell AD, Chen YT, Chang Cs, Yamamoto M, Tanimoto K, Engel JD, Embryonic and fetal beta-globin gene repression by the orphan nuclear receptors, TR2 and TR4., EMBO J., 26(9), 2295-306, 2007 PubMed
  2. Campbell AD, Cui S, Shi L, Urbonya R, Mathias A, Bradley K, Bonsu KO, Douglas RR, Halford B, Schmidt L, Harro D, Giacherio D, Tanimoto K, Tanabe O, Engel JD, Forced TR2/TR4 expression in sickle cell disease mice confers enhanced fetal hemoglobin synthesis and alleviated disease phenotypes., Proc. Natl. Acad. Sci. U.S.A., 108(46), 18808-13, 2011 PubMed
Created on 2020-01-08 09:04:13, Last reviewed on (Show full history)


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